Special

HsaEX0073244 @ hg38

Exon Skipping

Gene
ENSG00000198105 | ZNF248
Description
zinc finger protein 248 [Source:HGNC Symbol;Acc:HGNC:13041]
Coordinates
chr10:37828765-37856337:-
Coord C1 exon
chr10:37856296-37856337
Coord A exon
chr10:37837985-37838111
Coord C2 exon
chr10:37828765-37833116
Length
127 bp
Sequences
Splice sites
3' ss Seq
AAAAGAGTATACTATTACAGGAA
3' ss Score
1.75
5' ss Seq
TAGGTAAGG
5' ss Score
9.31
Exon sequences
Seq C1 exon
CTCTCCTTCCTCCACTAAGAGCGGAAAATGAACAAATCCCAG
Seq A exon
GAACAAGTGTCATTCAAGGATGTATGTGTGGACTTCACTCAGGAAGAGTGGTATCTGCTGGACCCTGCTCAGAAGATTCTATACAGAGATGTGATCCTGGAAAATTATAGCAATCTTGTCTCAGTAG
Seq C2 exon
AAAGGAAATGGAAAGTTGATGACGTGTTAGAGAGCAGCCAGGAAAATGAAGATGACCATTTTTGGGAGCTTCTATTCCACAACAACAAAACAGTAAGTGTAGAAAATGGAGATAGAGGAAGCAAAACTTTCAATTTGGGCACAGACCCTGTTTCTTTAAGAAATTATCCCTATAAAATATGTGACTCATGTGAAATGAATTTGAAAAATATTTCGGGCTTAATTATTAGTAAAAAGAACTGTTCCAGAAAGAAGCCTGATGAGTTTAATGTATGTGAGAAATTGCTCCTTGATATTAGGCATGAGAAAATCCCTATTGGAGAGAAGTCTTATAAATATGATCAAAAAAGGAATGCCATTAATTATCACCAGGATCTCAGTCAGCCAAGTTTTGGCCAATCTTTTGAGTATAGTAAAAATGGACAAGGCTTCCATGATGAGGCAGCATTTTTTACAAATAAGAGATCTCAGATAGGAGAGACAGTCTGTAAATATAACGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198105_MULTIEX2-5/6=3-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.079 A=0.000 C2=0.054
Domain overlap (PFAM):

C1:
NO
A:
PF0135222=KRAB=WD(100=95.3)
C2:
PF134651=zf-H2C2_2=WD(100=5.6),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=4.8),PF134651=zf-H2C2_2=WD(100=5.2)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000374648fB8083


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTTCCTCCACTAAGAGCGGA
R:
TCAAATTCATTTCACATGAGTCACA
Band lengths:
242-369
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development